A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study

Clin Neurol Neurosurg. 1987;89(4):287-92. doi: 10.1016/s0303-8467(87)80033-1.

Abstract

A case is presented of Dejerine-Sottas disease in a 12-year-old boy in which clinical signs made diagnosis of Friedreich's ataxia seem plausible. Based on marked slowing of motor conduction velocity, the sural nerve biopsy findings of a hypertrophic neuropathy with hypo- and demyelination of the nerve fibres, as well as the clinical history, the diagnosis of Dejerine-Sottas disease was made. ABR examination suggested involvement of brain stem at the roots and/or nuclei of the eighth cranial nerve, without involvement of higher structures.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ataxia / pathology*
  • Ataxia / physiopathology
  • Brain Stem / pathology*
  • Brain Stem / physiopathology
  • Demyelinating Diseases / pathology*
  • Demyelinating Diseases / physiopathology
  • Evoked Potentials, Auditory
  • Humans
  • Male
  • Peripheral Nervous System Diseases / pathology*
  • Peripheral Nervous System Diseases / physiopathology
  • Sural Nerve / pathology
  • Sural Nerve / ultrastructure